AOA1
MCID: ATX007
MIFTS: 27

Ataxia with Oculomotor Apraxia Type 1 (AOA1) malady

Genetic diseases (common), Neuronal diseases categories
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Summaries for Ataxia with Oculomotor Apraxia Type 1

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19GeneReviews, 33MalaCards
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MalaCards: Ataxia with Oculomotor Apraxia Type 1, also known as ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, is related to apraxia and ataxia. An important gene associated with Ataxia with Oculomotor Apraxia Type 1 is APTX (aprataxin), and among its related pathways is Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The compounds minocycline and creatinine have been mentioned in the context of this disorder. Related mouse phenotypes are taste/olfaction and homeostasis/metabolism.

GeneReviews summary for aoa

Aliases & Classifications for Ataxia with Oculomotor Apraxia Type 1

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8Disease Ontology, 19GeneReviews, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Neuronal diseases


Aliases & Descriptions:

ataxia with oculomotor apraxia type 1 8 19
ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 62
aoa1 19


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Disease Ontology8 DOID:0050754

Related Diseases for Ataxia with Oculomotor Apraxia Type 1

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Ataxia with Oculomotor Apraxia Type 1:



Diseases related to ataxia with oculomotor apraxia type 1

Symptoms for Ataxia with Oculomotor Apraxia Type 1

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Drugs & Therapeutics for Ataxia with Oculomotor Apraxia Type 1

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center for Ataxia with Oculomotor Apraxia Type 1

Genetic Tests for Ataxia with Oculomotor Apraxia Type 1

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Anatomical Context for Ataxia with Oculomotor Apraxia Type 1

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Animal Models for Ataxia with Oculomotor Apraxia Type 1 or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Ataxia with Oculomotor Apraxia Type 1:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.0SLC6A3, HTT
2MP:00053768.5SLC6A3, HTT, APTX
3MP:00053848.2SLC6A3, HTT, APTX

Publications for Ataxia with Oculomotor Apraxia Type 1

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52PubMed
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Articles related to Ataxia with Oculomotor Apraxia Type 1:

idTitleAuthorsYear
1
A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease. (23183622)
2012
2
Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit. (21686683)
2009
3
Nigrostriatal involvement in ataxia with oculomotor apraxia type 1. (18004640)
2008
4
Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit. (18202221)
2008
5
Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis. (18403580)
2008
6
Ataxia with oculomotor apraxia type 1 in Southern Italy: late onset and variable phenotype. (15596775)
2004
7
Cerebellar ataxia with oculomotor apRAxia type 1: clinical and genetic studies. (14506070)
2003
8
Ataxia with Oculomotor Apraxia Type 1 (20301629)
1993

Variations for Ataxia with Oculomotor Apraxia Type 1

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Expression for genes affiliated with Ataxia with Oculomotor Apraxia Type 1

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ataxia with Oculomotor Apraxia Type 1

Search GEO for disease gene expression data for Ataxia with Oculomotor Apraxia Type 1.

Pathways for genes affiliated with Ataxia with Oculomotor Apraxia Type 1

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50PathCards, 55Reactome, 30KEGG, 38NCBI BioSystems Database
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Pathways related to Ataxia with Oculomotor Apraxia Type 1 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1SLC6A3, HTT

Compounds for genes affiliated with Ataxia with Oculomotor Apraxia Type 1

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Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 24HMDB
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Compounds related to Ataxia with Oculomotor Apraxia Type 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1minocycline45 1110.1HTT, SLC6A3
2creatinine459.1HTT, SLC6A3
3coq10459.1APTX, HTT
4nmda45 2910.0SLC6A3, HTT
5dopamine45 29 24 1111.8SLC6A3, HTT

GO Terms for genes affiliated with Ataxia with Oculomotor Apraxia Type 1

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16Gene Ontology
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Cellular components related to Ataxia with Oculomotor Apraxia Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1axonGO:0304249.1SLC6A3, HTT

Biological processes related to Ataxia with Oculomotor Apraxia Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:0082199.3SLC6A3, APTX
2locomotory behaviorGO:0076268.8SLC6A3, HTT

Molecular functions related to Ataxia with Oculomotor Apraxia Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein N-terminus bindingGO:0474859.3SLC6A3, APTX

Products for genes affiliated with Ataxia with Oculomotor Apraxia Type 1

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Sources for Ataxia with Oculomotor Apraxia Type 1

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet